Gene Symbol | SNAPIN |
Entrez ID | 23557 |
Uniprot ID | O95295 |
Description | SNAP-associated protein |
Chromosomal Location | chr1: 153,658,654-153,661,830 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0006886 |
intracellular protein transport |
The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. |
IEA |
BP |
GO:0007042 |
lysosomal lumen acidification |
Any process that reduces the pH of the lysosomal lumen, measured by the concentration of the hydrogen ion. |
IEA |
BP |
GO:0007269 |
neurotransmitter secretion |
The regulated release of neurotransmitter from the presynapse into the synaptic cleft via calcium regualated exocytosis during synaptic transmission. |
TAS |
BP |
GO:0008089 |
anterograde axonal transport |
The directed movement of organelles or molecules along microtubules from the cell body toward the cell periphery in nerve cell axons. |
ISS |
BP |
GO:0008090 |
retrograde axonal transport |
The directed movement of organelles or molecules along microtubules from the cell periphery toward the cell body in nerve cell axons. |
IEA |
BP |
GO:0008333 |
endosome to lysosome transport |
The directed movement of substances from endosomes to lysosomes. |
IGI |
BP |
GO:0010977 |
negative regulation of neuron projection development |
Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
IEA |
BP |
GO:0016032 |
viral process |
A multi-organism process in which a virus is a participant. The other participant is the host. Includes infection of a host cell, replication of the viral genome, and assembly of progeny virus particles. In some cases the viral genetic material may integrate into the host genome and only subsequently, under particular circumstances, 'complete' its life cycle. |
IEA |
BP |
GO:0016079 |
synaptic vesicle exocytosis |
Fusion of intracellular membrane-bounded vesicles with the pre-synaptic membrane of the neuronal cell resulting in release of neurotransmitter into the synaptic cleft. |
IDA |
BP |
GO:0016188 |
synaptic vesicle maturation |
Steps required to form an initiated synaptic vesicle into a fully formed and transmissible synaptic vesicle. |
IEA |
BP |
GO:0031175 |
neuron projection development |
The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
ISS |
BP |
GO:0031629 |
synaptic vesicle fusion to presynaptic active zone membrane |
Fusion of the membrane of a synaptic vesicle with the presynaptic active zone membrane, thereby releasing its cargo neurotransmitters into the synaptic cleft. |
IEA |
BP |
GO:0032418 |
lysosome localization |
Any process in which a lysosome is transported to, and/or maintained in, a specific location. |
IMP |
BP |
GO:0032438 |
melanosome organization |
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a melanosome. A melanosome is a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. |
NAS |
BP |
GO:0034629 |
cellular protein complex localization |
A protein complex localization process that takes place at the cellular level; as a result, a protein complex is transported to, or maintained in, a specific location within a cell. |
IEA |
BP |
GO:0043393 |
regulation of protein binding |
Any process that modulates the frequency, rate or extent of protein binding. |
IMP |
BP |
GO:0048489 |
synaptic vesicle transport |
The directed movement of synaptic vesicles. |
IMP |
BP |
GO:0048490 |
anterograde synaptic vesicle transport |
The directed movement of synaptic vesicle along axonal microtubules from the cell body to the presynapse. |
ISS |
BP |
GO:0051604 |
protein maturation |
Any process leading to the attainment of the full functional capacity of a protein. |
IEA |
BP |
GO:0072553 |
terminal button organization |
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a terminal button. A terminal button is the terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters. |
IEA |
BP |
GO:0097352 |
autophagosome maturation |
The process in which autophagosomes, double-membraned vacuoles containing cytoplasmic material fuse with a vacuole (yeast) or lysosome (e.g. mammals and insects). In the case of yeast, inner membrane-bounded structures (autophagic bodies) appear in the vacuole. Fusion provides an acidic environment and digestive function to the interior of the autophagosome. |
IEA |
BP |
GO:1902774 |
late endosome to lysosome transport |
The directed movement of substances from late endosome to lysosome. |
IEA |
BP |
GO:1902824 |
positive regulation of late endosome to lysosome transport |
Any process that activates or increases the frequency, rate or extent of late endosome to lysosome transport. |
TAS |
CC |
GO:0000139 |
Golgi membrane |
The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
IEA |
CC |
GO:0005730 |
nucleolus |
A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
IDA |
CC |
GO:0005765 |
lysosomal membrane |
The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
IEA |
CC |
GO:0005794 |
Golgi apparatus |
A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions. |
IDA |
CC |
GO:0008021 |
synaptic vesicle |
A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane. |
IDA |
CC |
GO:0030054 |
cell junction |
A cellular component that forms a specialized region of connection between two or more cells or between a cell and the extracellular matrix. At a cell junction, anchoring proteins extend through the plasma membrane to link cytoskeletal proteins in one cell to cytoskeletal proteins in neighboring cells or to proteins in the extracellular matrix. |
IEA |
CC |
GO:0030141 |
secretory granule |
A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules. |
ISS |
CC |
GO:0030672 |
synaptic vesicle membrane |
The lipid bilayer surrounding a synaptic vesicle. |
IEA |
CC |
GO:0031083 |
BLOC-1 complex |
A protein complex required for the biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules. Many of the protein subunits are conserved between mouse and human; the mouse complex contains the Pallidin, Muted, Cappuccino, Dysbindin, Snapin, BLOS1, BLOS2, AND BLOS3 proteins. |
IDA |
CC |
GO:0045202 |
synapse |
The junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell; the site of interneuronal communication. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
IDA |
CC |
GO:0048471 |
perinuclear region of cytoplasm |
Cytoplasm situated near, or occurring around, the nucleus. |
IDA |
CC |
GO:0099078 |
BORC complex |
A protein complex that is invovled in positioning of the lysosome within the cytoplasm and which is composed of BLOC1S1, BLOC1S2, BORCS5, BORCS6, BORCS7, BORCS8, KXD1 and SNAPIN. The BORC complex recruits ARL8 at the cytosolic face of lysosomes and couples them to microtubule plus-end-directed kinesin motors. |
IDA |
CC |
GO:1904115 |
axon cytoplasm |
Any cytoplasm that is part of a axon. |
IEA |
MF |
GO:0000149 |
SNARE binding |
Interacting selectively and non-covalently with a SNARE (soluble N-ethylmaleimide-sensitive factor attached protein receptor) protein. |
IDA |
MF |
GO:0005515 |
protein binding |
Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). |
IPI |
Domain ID | Description |
---|---|
IPR017246 |
Snapin |
IPR028119 |
Snapin/Pallidin/Snn1 |
Tissue | Cell Type |
---|---|
adrenal gland |
glandular cells |
bone marrow |
hematopoietic cells |
cerebellum |
Purkinje cells |
cerebral cortex |
endothelial cells |
colon |
endothelial cells |
endometrium |
glandular cells |
kidney |
cells in glomeruli |
kidney |
cells in tubules |
lung |
macrophages |
ovary |
follicle cells |
parathyroid gland |
glandular cells |
placenta |
decidual cells |
skin |
fibroblasts |
skin |
Langerhans |
skin |
melanocytes |
small intestine |
glandular cells |
soft tissue |
chondrocytes |
soft tissue |
adipocytes |
soft tissue |
fibroblasts |
testis |
Leydig cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
12734205 |
Wood et al. |
2003 |
The Molecular Phenotype of Polycystic Ovary Syndrome (PCOS) Theca Cells and New Candidate PCOS Genes Defined by Microarray Analysis |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
ACTN2 |
88 |
P35609 |
0.63 |
ATP1A1 |
476 |
P05023 |
0.63 |
DST |
667 |
Q03001 |
0.63 |
MAPK14 |
1432 |
Q16539 |
0.63 |
EEF1G |
1937 |
P26641 |
0.63 |
KRT17 |
3872 |
Q04695 |
0.63 |
MTNR1A |
4543 |
P48039 |
0.63 |
MYH3 |
4621 |
P11055 |
0.63 |
SPTBN1 |
6711 |
Q01082 |
0.63 |
TPM1 |
7168 |
P09493 |
0.63 |
TPM2 |
7169 |
P07951 |
0.63 |
YWHAE |
7531 |
P62258 |
0.63 |
CDC42BPA |
8476 |
Q5VT25 |
0.63 |
KAT7 |
11143 |
O95251 |
0.63 |
SMG1 |
23049 |
Q96Q15 |
0.63 |
MYH14 |
79784 |
Q7Z406 |
0.63 |
VOPP1 |
81552 |
Q96AW1 |
0.63 |
FAM114A1 |
92689 |
Q8IWE2 |
0.63 |
GPRASP2 |
114928 |
Q96D09 |
0.63 |
Q59GB8_HUMAN |
N/A |
Q59GB8 |
0.63 |
SLC14A2 |
8170 |
Q15849 |
0.75 |
RGS7 |
6000 |
P49802 |
0.79 |
SNAP23 |
8773 |
O00161 |
0.79 |
LRRK2 |
120892 |
Q5S007 |
0.79 |
CEP170 |
9859 |
Q5SW79 |
0.82 |
BLOC1S1 |
2647 |
P78537 |
0.91 |
SCLT1 |
132320 |
Q96NL6 |
0.49 |
PRKACA |
5566 |
P17612 |
0.55 |
BIN1 |
274 |
O00499 |
0.63 |
DDR1 |
780 |
Q08345 |
0.63 |
DES |
1674 |
P17661 |
0.63 |
DNM2 |
1785 |
P50570 |
0.63 |
TOR1A |
1861 |
O14656 |
0.63 |
ENO3 |
2027 |
P13929 |
0.63 |
KIF5C |
3800 |
O60282 |
0.63 |
KPNB1 |
3837 |
Q14974 |
0.63 |
LAMA2 |
3908 |
P24043 |
0.63 |
SMAD2 |
4087 |
Q15796 |
0.63 |
MET |
4233 |
P08581 |
0.63 |
MYH7 |
4625 |
P12883 |
0.63 |
NEDD9 |
4739 |
Q14511 |
0.63 |
PLEC |
5339 |
Q15149 |
0.63 |
SHBG |
6462 |
P04278 |
0.63 |
SUMO2 |
6613 |
P61956 |
0.63 |
SPP1 |
6696 |
P10451 |
0.63 |
SPTB |
6710 |
P11277 |
0.63 |
YWHAZ |
7534 |
P63104 |
0.63 |
ST7 |
7982 |
Q9NRC1 |
0.63 |
HERC2 |
8924 |
O95714 |
0.63 |
RABEP1 |
9135 |
Q15276 |
0.63 |
GPRASP1 |
9737 |
Q5JY77 |
0.63 |
TOMM70 |
9868 |
O94826 |
0.63 |
KAT5 |
10524 |
Q92993 |
0.63 |
DOCK9 |
23348 |
Q9BZ29 |
0.63 |
MACF1 |
23499 |
Q9UPN3 |
0.63 |
RABGEF1 |
27342 |
Q9UJ41 |
0.63 |
COPS4 |
51138 |
Q9BT78 |
0.63 |
FAM134B |
54463 |
Q9H6L5 |
0.63 |
C17orf59 |
54785 |
Q96GS4 |
0.63 |
BLOC1S4 |
55330 |
Q9NUP1 |
0.63 |
BCAS4 |
55653 |
Q8TDM0 |
0.63 |
EXOC1 |
55763 |
Q9NV70 |
0.63 |
BLOC1S5 |
63915 |
Q8TDH9 |
0.63 |
Tex35 |
84066 |
Q5T0J7 |
0.63 |
TRIM63 |
84676 |
Q969Q1 |
0.63 |
CCDC151 |
115948 |
A5D8V7 |
0.63 |
TMEM171 |
134285 |
Q8WVE6 |
0.63 |
BNIPL |
149428 |
Q7Z465 |
0.63 |
CMYA5 |
202333 |
Q8N3K9 |
0.63 |
DYSF |
8291 |
O75923 |
0.65 |
EBAG9 |
9166 |
O00559 |
0.67 |
RNF13 |
11342 |
O43567 |
0.70 |
LRP12 |
29967 |
Q9Y561 |
0.72 |
HAP1 |
9001 |
P54257 |
0.73 |
SPAG5 |
10615 |
Q96R06 |
0.73 |
IMMT |
10989 |
Q16891 |
0.73 |
CSNK1D |
1453 |
P48730 |
0.74 |
TRPV1 |
7442 |
Q8NER1 |
0.79 |
LAMC1 |
3915 |
P11047 |
0.82 |
IKBKAP |
8518 |
O95163 |
0.82 |
BLOC1S3 |
388552 |
Q6QNY0 |
0.83 |
CEP170P1 |
645455 |
Q96L14 |
0.86 |
BLOC1S6 |
26258 |
Q9UL45 |
0.88 |
SNAP25 |
6616 |
P60880 |
0.89 |
DTNBP1 |
84062 |
Q96EV8 |
0.90 |
BLOC1S2 |
282991 |
Q6QNY1 |
0.99 |